| Variant ID | 29391 |
|---|---|
| Entrez Gene ID | 80705 |
| Gene | TSGA10 (GeneCards) |
| Location | hg19 2:99681512-99681512
hg38 2:99065049-99065049 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000002.11:g.99681512 G>A (Genome Assembly: hg19) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.4438 |
| CADD Raw score (version 1.3) | 7.427034 (Deleterious) |
| FATHMM raw prediction score | 0.89169 (Tolerated) |
| SIFT score | 0.006 (Deleterious) |
| LRT score | 0.009 (Tolerated) |
| MutationTaster score | 0.872 (Deleterious) |
| MutatioinAssessor score | 1.24 (Tolerated) |
| PROVEAN score | -3.51 (Deleterious) |
| MetaSVM score | -1.159 (Tolerated) |
| MetaLR score | 0.043 (Tolerated) |
| MCAP score | 0.012 (Tolerated) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.3 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.836 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.481 |
| Deleterious probability by iFish2 | 0.6727 (Deleterious) |
| Deleterious probability by DeFine | 0.9636 (Deleterious) |
| Entrez Gene ID | 80705 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TSGA10 (GeneCards) |
| Number of variants in TSGA10 in this database | 3 (view all the variants) |
| Full name | testis specific 10 |
| Band | 2q11.2 |
| Other IDs | Vega: OTTHUMG00000130637 OMIM: 607166 HGNC: HGNC:14927 Ensembl: ENSG00000135951 |
| Other names | CT79, CEP4L, SPGF26 |
| Summary | None |
| Individual ID | 28714951.67 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |